AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceHealth Care
Retinitis PigmentosaCytomegalovirus RetinitisElectroretinographyEye ProteinsRhodopsinRetinitisRetinal DegenerationGenes, DominantPhotoreceptor Cells, VertebratePedigreeGenes, RecessiveRetinaPeripherinsGenetic Diseases, X-LinkedFundus OculiDark AdaptationVisual AcuityPhotoreceptor CellsCyclic Nucleotide Phosphodiesterases, Type 6Retinal Rod Photoreceptor CellsVisual FieldsUsher SyndromesRetinal Cone Photoreceptor CellsMutationNight BlindnessDNA Mutational AnalysisGenetic LinkageRod OpsinsBlindnessConsanguinityVisual Field TestsX ChromosomeExonsMutation, MissenseEye Diseases, HereditaryFluorescein AngiographyTomography, Optical CoherenceHomozygoteMolecular Sequence DataIMP DehydrogenaseRetinal DiseasesLaurence-Moon SyndromeCarbonic Anhydrase IVLeber Congenital AmaurosisRibonucleoprotein, U4-U6 Small NuclearRetinal Photoreceptor Cell Outer SegmentTetraspaninsLod ScorePhenotypeFovea CentralisVision DisordersPolymorphism, Single-Stranded ConformationalIntermediate Filament ProteinsPhotoreceptor Connecting CiliumChromosome MappingSensory ThresholdsOpsinsFrameshift MutationGenes, X-Linkedcis-trans-IsomerasesPolymerase Chain ReactionRetinal DysplasiaMacula LuteaDisease Models, AnimalHeterozygoteSyndromeBase SequenceOptic Atrophy, Hereditary, LeberAtaxiaAmino Acid SequenceEye Infections, ViralPhosphenesCodon, NonsenseVision TestsRetinal DystrophiesBardet-Biedl SyndromeVision, OcularSequence Analysis, DNAOphthalmoscopyPoint MutationCiliaVision, LowGenotypeRats, TransgenicVisual ProsthesisLightRod Cell Outer SegmentOphthalmoscopesElectrooculographyOptic Atrophies, HereditaryCarrier ProteinsFoscarnetRNA SplicingGenetic TestingRetinal Pigment EpitheliumRetinal Bipolar CellsGenetic HeterogeneityChromosomes, Human, Pair 19ArrestinDelayed Diagnosis
RetinaGenesPhenotypeCone-rod dystrMutationsVisual AcuityMacularCongenital AmaurosisSymptomsDisordersAutosomal dominantInherited diseases2022MutationRPGRRetinal DegenerationDegenerativeGeneticsBlindnessUsher SyndromeFundusMitochondrialGenetic diagnosisAbnormalitiesPigmentationPatientsMolecularPhotoreceptorsTreatmentMichelleMechanismsPeripheral visionProgressionSubjectsVisionFamilyRare
Retina15
  • Retinitis pigmentosa (RP) is a group of rare diseases affecting the retina and leading to vision loss over time. (medicalnewstoday.com)
  • This takes a high-resolution picture of the retina for diagnosis and to determine how RP is affecting the person's eye, particularly the macula, which is responsible for central vision. (medicalnewstoday.com)
  • To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper ( NRL) . (molvis.org)
  • Retinitis pigmentosa (RP) is a group of inherited disorders of the retina that are characterized initially by the loss of rod photoreceptor function followed by cone photoreceptors. (molvis.org)
  • Retinitis Pigmentosa (RP) affects the sensory cells in the retina, which is the layer lining the inside of the eye. (deafblind.co.uk)
  • Retinitis pigmentosa is a slowly progressive, bilateral degeneration of the retina and retinal pigment epithelium caused by various genetic mutations. (msdmanuals.com)
  • Diagnosis is by funduscopy, which shows pigmentation in a bone-spicule configuration in the equatorial retina, narrowing of the retinal arterioles, a waxy pallor of the optic disk, posterior subcapsular cataracts, and cells in the vitreous. (msdmanuals.com)
  • Retinitis Pigmentosa (RP) is a genetic condition that affects cells in the back of the retina called photoreceptors. (look-uk.org)
  • Retinitis pigmentosa is a degenerative eye condition that slowly destroys the retina, the light-sensitive tissue at the back of the eye. (qps.com)
  • Retinitis pigmentosa (RP) is a rare and untreatable genetic eye disease wherein the cells in the retina, the light-sensitive tissue at the back of the eye, slowly break down over time. (qps.com)
  • Retinitis pigmentosa (RP) is the name of a group of genetic or inherited diseases that affect the retina. (cera.org.au)
  • In early 2015, Jennifer was diagnosed with retinitis pigmentosa, a group of rare genetic disorders that involve a breakdown and death of cells in the retina, eventually resulting, among other complications, in vision loss. (panmacmillan.com)
  • Retinitis pigmentosa (RP) is a large group of rare eye diseases that cause progressive degeneration of the membrane lining the eyes (retina). (rarediseases.org)
  • Retinitis pigmentosa affects the retina, gradually limiting the field of vision until the person becomes completely blind. (adventistworld.org)
  • hereditary diseases: retinitis pigmentosa, angioid streaks of the retina, etc. (who.int)
Genes8
  • Clinically, testing of GJB2 and GJB6 plays a prominent role in diagnosis and genetic counseling because mutations in these genes account for more than 50% of severe-to-profound autosomal recessive nonsyndromic deafness in many world populations. (nature.com)
  • We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. (nih.gov)
  • Among the 135 with a prior clinical diagnosis of XLRP, mutations in the RP2 and RPGR genes were found in 9 of 135 (6.7%) and 98 of 135 (72.6%), respectively, for a total of 79% of patients. (nih.gov)
  • Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa. (genomeweb.com)
  • Between 40 to 50 percent of cases of retinitis pigmentosa have no explanation, meaning they carry mutations in genes yet to be identified. (eurekalert.org)
  • The diagnosis for this type of illness is challenging, given the wide range of clinical and genetic causes (with over 200 causative genes). (warwick.ac.uk)
  • Mutations at several hundred different genes cause vitreoretinal disorders, such as retinitis pigmentosa, and changes in several dozen genes cause familial hypertrophic cardiomyopathy. (mhmedical.com)
  • This fact complicates DNA diagnosis of patients and screening for carriers of defects in specific genes. (mhmedical.com)
Phenotype2
Cone-rod dystr1
Mutations6
  • Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations. (medscape.com)
  • Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa. (wikipedia.org)
  • We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnosis of XLRP, 11 with probable XLRP, 30 isolate cases suspected of having XLRP, and 11 with cone-rod degeneration. (nih.gov)
  • Sensitive, reliable outcome measures of retinal degeneration will greatly facilitate development of treatments for retinitis pigmentosa due to EYS mutations. (ucsf.edu)
  • Mutations in the ORF15 region of RPGR account for approximately half of all X-linked retinitis pigmentosa cases. (arvojournals.org)
  • These mutations could also occur sporadically in which case the lack of a family history would make the diagnosis even more difficult. (medscape.com)
Visual Acuity2
Macular4
Congenital Amaurosis1
Symptoms3
  • The retinitis pigmentosa (RP) may look the same even to an experienced eye doctor except that the symptoms can begin earlier in Type I. Usher syndrome is one of several conditions in which both hearing loss and retinitis pigmentosa are present. (deafblind.co.uk)
  • Years of tests followed with no definitive diagnosis, and it wasn't until Michelle's brother started presenting similar symptoms shortly after his birth, that they were both diagnosed with RP. (look-uk.org)
  • Nearly half of these patients presented with visual symptoms prior to the diagnosis of their underlying malignancy. (reviewofophthalmology.com)
Disorders7
  • Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. (medscape.com)
  • The recent application of molecular genetic techniques to retinal disorders has led to remarkable advances in the understanding, diagnosis, and treatment of these conditions. (cshlpress.com)
  • This variability has led in recent years to some confusion about terminology and the clinical diagnosis of this group of disorders. (aao.org)
  • Additionally, an individual with AVED may experience eye abnormalities (retinitis pigmentosa), disorders affecting the heart muscles (cardiomyopathy) and abnormal curvature of the spine (scoliosis). (rarediseases.org)
  • A major impact has been in the diagnosis of mendelian disorders. (mhmedical.com)
  • Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. (cdc.gov)
  • Modern genetic techniques have helped us hugely in characterizing these disorders and providing a molecular diagnosis in the face of nonspecific clinical data. (medscape.com)
Autosomal dominant1
  • Genetic testing was performed, confirming a heterozygous variant in NR2E3 , consistent with autosomal dominant retinitis pigmentosa in this patient. (aao.org)
Inherited diseases1
20221
  • Current Medical Diagnosis & Treatment 2022 Papadakis MA, McPhee SJ, Rabow MW, McQuaid KR. (mhmedical.com)
Mutation2
RPGR1
  • The typing targeted 5 additional loci, including the 47-kDa protein (CP47 microsatellite), a serine repeat antigen (MSC6-7 minisatellite), a hypothetical retinitis pigmentosa GTPase regulator (RPGR minisatellite), and a hydroxyproline-rich glycoprotein (DZHRGP minisatellite and microsatellite) in chromosome 6 and the 70-kDa heat shock protein (HSP70 minisatellite) in chromosome 2. (cdc.gov)
Retinal Degeneration1
  • Retinitis pigmentosa, it turns out, is not one disease but many - it's an antiquated categorization that includes more than 250 unique variations on the theme of retinal degeneration. (brandeis.edu)
Degenerative2
Genetics1
  • Direct inspection of nucleic acids-often called "molecular genetics" or "DNA diagnosis"-is an important tool in a number of clinical areas, including oncology, infectious disease, forensics, and the general study of pathophysiology. (mhmedical.com)
Blindness1
  • Since this diagnosis, educating people on the varying degrees of blindness has become another passion for her - right alongside writing, which she plans to do for as long as she can. (panmacmillan.com)
Usher Syndrome2
  • Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, and retinitis pigmentosa (RP). (nih.gov)
  • Since Rubella is much less common now than in the 1960s and early 1970s, the diagnosis of Usher syndrome should be considered in cases with salt and pepper pigmentation patterns. (deafblind.co.uk)
Fundus3
  • Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al. (nih.gov)
  • After medication toxicities were ruled out by the patient's history, the fundus autofluorescence findings helped to narrow down the differential diagnosis to mitochondrial conditions and certain retinitis pigmentosa variants. (aao.org)
  • Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. (asperbio.com)
Mitochondrial3
  • citation needed] Neuropathy, ataxia, and retinitis pigmentosa is a condition related to changes in mitochondrial DNA. (wikipedia.org)
  • Mitochondrial studies or NARP mtDNA evaluation plays a role in genetic diagnosis which can also be done prenatally. (wikipedia.org)
  • Alternatively, diagnosis may be established by muscle biopsy with histochemistry and mitochondrial DNA (mtDNA) analysis for major rearrangements. (medscape.com)
Genetic diagnosis4
  • Genetic counseling and risk assessment are dependent on the accurate determination of the specific genetic diagnosis. (nature.com)
  • We are already exploring the gene's role in patients without a genetic diagnosis. (eurekalert.org)
  • Pre-implantation Genetic Diagnosis or PGD can help in distinguishing embryos which are healthy from embryos that are affected with the specific genetic disease, thus allowing such couples to have disease free babies. (ivfgangaram.in)
  • What do parents expect from a genetic diagnosis of their child with intellectual disability? (cdc.gov)
Abnormalities1
  • As the rate of acquired hearing loss secondary to environmental causes decreases and improvements in the diagnosis of abnormalities occur, the significance of genetic factors that lead to deafness increases. (nature.com)
Pigmentation1
  • Additional peripheral changes may include pigmentation, which can resemble retinitis pigmentosa, sublinear retinal fibrosis, white retinal flecks and vascular attenuation or sheathing. (institut-vision.org)
Patients11
  • Cataract surgery in retinitis pigmentosa patients. (medscape.com)
  • Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment . (symptoma.com)
  • The diagnosis is suspected in patients with poor night vision or a family history. (msdmanuals.com)
  • There is no way to reverse damage caused by retinitis pigmentosa, but vitamin A palmitate 15,000 IU orally once a day may help slow disease progression in some patients. (msdmanuals.com)
  • Unlike CAR, which frequently precedes the discovery of systemic malignancy, patients with melanoma-associated retinopathy (MAR) usually carry an existing diagnosis of melanoma. (reviewofophthalmology.com)
  • Genetic testing for x-linked retinitis pigmentosa is preferred in the male patients/families with nonsyndromic retinitis pigmentosa and with family history of x-linked retinitis pigmentosa. (asperbio.com)
  • The study included 279 patients from the retinitis pigmentosa research registry (comprising diagnosis within the whole IRD spectrum), hosted at the Department of Ophthalmology, Skåne University hospital, Sweden. (lu.se)
  • In 7% of the patients there was a discrepancy between the diagnosis made based on phenotypical or genotypical findings alone. (lu.se)
  • DNA samples from 797 unrelated patients with LCA and 211 with the various types of retinitis pigmentosa (RP) were screened by Sanger sequence analysis of all LCA5 exons and intron/exon junctions. (eyehospital.nl)
  • Genetic testing in patients with retinitis pigmentosa: features of unsolved cases. (cdc.gov)
  • Dès le début de la pandémie, l'établissement hospitalier et universitaire d'Oran (EHUO), centre de soins de première ligne, d'une capacité 780 lits desservant environ 2 millions d'habitants s'est complètement réorganisé, en aménageant principalement des circuits pour le tri des patients « suspects Covid 19 ¼. (bvsalud.org)
Molecular6
  • In the absence of a specific diagnosis, empiric recurrence risk figures, coupled with GJB2 and GJB6 molecular genetic testing results, may be used for genetic counseling. (nature.com)
  • One of the most common causes of inherited vision loss is retinitis pigmentosa, a genetic disorder for which the molecular mechanisms involved are poorly understood. (eurekalert.org)
  • The diagnosis of OFD1 is established in a female proband with suggestive findings and a heterozygous OFD1 pathogenic variant identified by molecular genetic testing . (nih.gov)
  • Clinical descriptions of HSAN are somewhat inconsistent, possibly as result of reports lacking molecular genetic confirmation of the diagnosis. (amedes-genetics.de)
  • Polymerase chain reaction (PCR) studies revolutionized many aspects of molecular biology, and DNA diagnosis came to involve this technique. (mhmedical.com)
  • Molecular diagnosis of X-linked chronic granulomatous disease in Iran. (lu.se)
Photoreceptors2
Treatment3
  • The creation of a smart contact lens (SCL) equipped with electronic components, such as sensors and components of wireless communication, allows it to measure multiple biometric data that could help in disease diagnosis and treatment. (news-medical.net)
  • They knew there was nothing they could do in terms of treatment - retinitis pigmentosa does not have a known cure or treatment - but they wanted to help equip and prepare their children for the future. (qps.com)
  • A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA -mutated breast cancer. (cdc.gov)
Michelle2
  • LOOK mentor Michelle shares what it was like coming to terms with her RP diagnosis and talks about the importance of staying positive and asking for help. (look-uk.org)
  • Michelle advises other visually impaired young people going through an RP diagnosis to stay positive and 'fight through it. (look-uk.org)
Mechanisms1
Peripheral vision1
Progression2
  • This hinders early diagnosis or rapid tracking of the disease progression, as large quantities of ganglion cells need to disappear before physicians can see the changes in thickness. (sciencedaily.com)
  • WeakGCSeg also has the potential to improve diagnosis and tracking the progression of neurological diseases. (sciencedaily.com)
Subjects2
  • This paper presents a novel Clinical Decision Support System (CDSS), based on Machine Learning using Chromatic Pupillometry in order to support diagnosis of Inherited retinal diseases in pediatric subjects. (warwick.ac.uk)
  • The designed CDSS has been used for diagnosis of Retinitis Pigmentosa in pediatric subjects. (warwick.ac.uk)
Vision5
  • In some cases, the vision loss results from a condition called retinitis pigmentosa. (wikipedia.org)
  • Loss of field vision, although not necessarily pronounced in early life, could also have been part of the deaf child's visual experience for some years before the point of diagnosis. (deafblind.com)
  • Her passion for this role with the Foundation stems from personal challenges with vision loss due to retinitis pigmentosa. (learnit.com)
  • John has retinitis pigmentosa (RP) with light-perception only vision remaining. (learnit.com)
  • Richard is blind from X-linked, retinitis pigmentosa with only less than 1% tunnel vision remaining and has a guide dog from Guide Dogs for the Blind so that he is able to travel anywhere in the country. (learnit.com)
Family2
Rare4